Functional Characterization of Wild-Type and a Mutated Form of SLC26A4 Identified in a Patient with Pendred Syndrome | Zendy

Silvia Dossena | Zendy; Valeria Vezzoli | Zendy; Nadia Cerutti | Zendy; Claudia Bazzini | Zendy; M. Tosco | Zendy; Chiara Sironi | Zendy; Simona Rodighiero | Zendy; G. Meyer | Zendy; Umberto Fascio | Zendy; Johannes Fürst | Zendy; Markus Ritter | Zendy; Laura Fugazzola | Zendy; Luca Persani | Zendy; Patrick Zorowka | Zendy; Carlo Storelli | Zendy; Paolo Beck- Peccoz | Zendy; Guido Fernando Botta | Zendy; Markus Paulmichl | Zendy

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Functional Characterization of Wild-Type and a Mutated Form of SLC26A4 Identified in a Patient with Pendred Syndrome

Author(s) -

Silvia Dossena,

Valeria Vezzoli,

Nadia Cerutti,

Claudia Bazzini,

M. Tosco,

Chiara Sironi,

Simona Rodighiero,

G. Meyer,

Umberto Fascio,

Johannes Fürst,

Markus Ritter,

Laura Fugazzola,

Luca Persani,

Patrick Zorowka,

Carlo Storelli,

Paolo Beck- Peccoz,

Guido Fernando Botta,

Markus Paulmichl

Publication year - 2006

Publication title -

cellular physiology and biochemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.486

H-Index - 87

eISSN - 1421-9778

pISSN - 1015-8987

DOI - 10.1159/000094137

Subject(s) - pendrin , dids , organification , wild type , medicine , mutant , endocrinology , hek 293 cells , iodide , chemistry , goiter , thyroid , biochemistry , gene , transporter , receptor , organic chemistry , membrane

Malfunction of the SLC26A4 protein leads to prelingual deafness often associated with mild thyroid dysfunction and goiter. It is assumed that SLC26A4 acts as a chloride/anion exchanger responsible for the iodide organification in the thyroid gland, and conditioning of the endolymphatic fluid in the inner ear.

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